Details for NLRP12:c.1206C>G, p.Phe402Leu

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
5431370753810453
VARIANT EFFECT None
ANNOTATION FLAG None
GENE NLRP12
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_001277126.2
CDNA CHANGE c.1206C>G
PROTEIN CHANGE p.Phe402Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.0270.00530.05480.00990.06260.0174

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.050780.01120.0340.037920.0077750.051620.077370.062220.01917

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging1.262438Polymorphism
DBSNP ID NA
9 combinations linked to NLRP12:c.1206C>G, p.Phe402Leu OLI1761; OLI1762; OLI1763; OLI1766; OLI1767; OLI1779; OLI1780; OLI1781; OLI1785
1 disease linked to NLRP12:c.1206C>G, p.Phe402Leu Autoinflammatory syndrome
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